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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Verloes Van Maldergem Marneffe Syndrome
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Accession:DOID:9005021 term browser browse the term
Synonyms:exact_synonym: Dominantly inherited bone dysplasia with severe eye involvement;   Microspherophakia-metaphyseal dysplasia
 primary_id: MESH:C536540
 alt_id: OMIM:157151



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10886
      Verloes Van Maldergem Marneffe Syndrome 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      musculoskeletal system disease 8306
        connective tissue disease 5786
          bone disease 4302
            bone development disease 2307
              osteochondrodysplasia 861
                Verloes Van Maldergem Marneffe Syndrome 0
paths to the root